Kim Juwon, Kim Sun-Hee, Song Jaewoo, Choi Jong Rak, Kim Ho-Seong, Lee Kyung-A
Department of Laboratory Medicine, Yonsei University College of Medicine, Kangnamgu, Seoul 146-92, Korea.
Ann Clin Lab Sci. 2010 Summer;40(3):295-9.
We report a case of a female with SRY-negative XXYp-. The karyotype by the conventional method revealed chromosome 22 with a short arm enlargement. The enlarged short arm contained a heterochromatic region, which was found by the whole chromosome painting method to be a part of the Y chromosome without the P arm. Chromosome study of the parents revealed that the t(Y;22) chromosome was derived from the patient's father who was phenotypically normal. Although the Y fragment was transmitted in patrilinear fashion in this case, our patient with intact copies of both X chromosomes and the Y chromosome with a deleted p arm is expected to show normal fertility. However, the patient should be closely followed in regard to fertility and the possibility of developing a gonadoblastoma.
我们报告一例SRY阴性的XXYp-女性病例。常规方法检测的核型显示22号染色体短臂增大。增大的短臂包含一个异染色质区域，通过全染色体涂染法发现该区域是Y染色体的一部分，但不含P臂。对其父母的染色体研究表明，t(Y;22)染色体来自表型正常的患者父亲。尽管在该病例中Y片段以父系方式传递，但我们这位同时拥有两条完整X染色体以及一条p臂缺失的Y染色体的患者预计生育能力正常。然而，仍应对该患者的生育能力以及发生性腺母细胞瘤的可能性进行密切随访。
